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Aliases for PHIP Gene

Aliases for PHIP Gene

  • Pleckstrin Homology Domain Interacting Protein 2 3 5
  • DDB1 And CUL4 Associated Factor 14 2 3
  • IRS-1 PH Domain-Binding Protein 3 4
  • WD Repeat-Containing Protein 11 3 4
  • WDR11 3 4
  • PH-Interacting Protein 3
  • DCAF14 3
  • BRWD2 3
  • Ndrp 3

External Ids for PHIP Gene

Previous HGNC Symbols for PHIP Gene

  • WDR11

Previous GeneCards Identifiers for PHIP Gene

  • GC06M079593
  • GC06M079645
  • GC06M079707
  • GC06M079644
  • GC06M076837

Summaries for PHIP Gene

Entrez Gene Summary for PHIP Gene

  • This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]

GeneCards Summary for PHIP Gene

PHIP (Pleckstrin Homology Domain Interacting Protein) is a Protein Coding gene. Diseases associated with PHIP include Melanoma Metastasis and Phimosis. GO annotations related to this gene include insulin receptor binding and lysine-acetylated histone binding. An important paralog of this gene is BRWD3.

UniProtKB/Swiss-Prot for PHIP Gene

  • Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHIP Gene

Genomics for PHIP Gene

Regulatory Elements for PHIP Gene

Enhancers for PHIP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G079008 0.3 FANTOM5 2.3 +69.6 69589 0.4 IRAK1BP1 PHIP GC06M079003 GC06P079000
GH06G079084 0.4 Ensembl 0.4 -6.0 -6007 0.6 IKZF1 CEBPG PHIP GC06P079122
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PHIP on UCSC Golden Path with GeneCards custom track

Promoters for PHIP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000199164 494 4001 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 ZNF766 CBX5

Genomic Location for PHIP Gene

Chromosome:
6
Start:
78,934,419 bp from pter
End:
79,078,294 bp from pter
Size:
143,876 bases
Orientation:
Minus strand

Genomic View for PHIP Gene

Genes around PHIP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHIP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHIP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHIP Gene

Proteins for PHIP Gene

  • Protein details for PHIP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWQ0-PHIP_HUMAN
    Recommended name:
    PH-interacting protein
    Protein Accession:
    Q8WWQ0
    Secondary Accessions:
    • A7J992
    • B2RPK4
    • Q05CQ9
    • Q5VVH4
    • Q66I29
    • Q69YV1
    • Q8NBZ5
    • Q96H52
    • Q96ME2
    • Q9H261

    Protein attributes for PHIP Gene

    Size:
    1821 amino acids
    Molecular mass:
    206689 Da
    Quaternary structure:
    • Interacts with IRS1 and IRS2 (By similarity). Interacts (via bromo domain) with acetylated lysine residues on histone H1.4, histone H3 and H4 (in vitro).
    SequenceCaution:
    • Sequence=AAH21905.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAC11417.1; Type=Frameshift; Positions=1648; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PHIP Gene

neXtProt entry for PHIP Gene

Post-translational modifications for PHIP Gene

  • Ubiquitination at Lys65, posLast=400400, posLast=10051005, posLast=10321032, posLast=11501150, posLast=13931393, Lys1528, Lys1542, and Lys1736
  • Modification sites at PhosphoSitePlus

Other Protein References for PHIP Gene

No data available for DME Specific Peptides for PHIP Gene

Domains & Families for PHIP Gene

Suggested Antigen Peptide Sequences for PHIP Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PHIP: view

No data available for UniProtKB/Swiss-Prot for PHIP Gene

Function for PHIP Gene

Molecular function for PHIP Gene

UniProtKB/Swiss-Prot Function:
Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a role in the regulation of cell morphology and cytoskeletal organization.

Gene Ontology (GO) - Molecular Function for PHIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005158 insulin receptor binding NAS 11018022
GO:0005515 protein binding IPI 11018022
GO:0070577 lysine-acetylated histone binding IDA 22464331
genes like me logo Genes that share ontologies with PHIP: view
genes like me logo Genes that share phenotypes with PHIP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PHIP
  • Applied Biological Materials Clones for PHIP

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PHIP Gene

Localization for PHIP Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHIP Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHIP gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for PHIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS,IBA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PHIP: view

Pathways & Interactions for PHIP Gene

No Data Available

Gene Ontology (GO) - Biological Process for PHIP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001932 regulation of protein phosphorylation ISS --
GO:0007010 cytoskeleton organization IMP 21834987
GO:0008284 positive regulation of cell proliferation ISS --
GO:0008286 insulin receptor signaling pathway NAS 11018022
GO:0008360 regulation of cell shape IBA --
genes like me logo Genes that share ontologies with PHIP: view

No data available for Pathways by source and SIGNOR curated interactions for PHIP Gene

Drugs & Compounds for PHIP Gene

No Compound Related Data Available

Transcripts for PHIP Gene

mRNA/cDNA for PHIP Gene

(6) REFSEQ mRNAs :
(18) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PHIP Gene

Pleckstrin homology domain interacting protein:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PHIP
  • Applied Biological Materials Clones for PHIP

Alternative Splicing Database (ASD) splice patterns (SP) for PHIP Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
SP1: - - -
SP2: - -
SP3: -
SP4:

Relevant External Links for PHIP Gene

GeneLoc Exon Structure for
PHIP
ECgene alternative splicing isoforms for
PHIP

Expression for PHIP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHIP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PHIP Gene

This gene is overexpressed in Plasma (14.6) and Peripheral blood mononuclear cells (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PHIP Gene



Protein tissue co-expression partners for PHIP Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PHIP Gene:

PHIP

SOURCE GeneReport for Unigene cluster for PHIP Gene:

Hs.511817

mRNA Expression by UniProt/SwissProt for PHIP Gene:

Q8WWQ0-PHIP_HUMAN
Tissue specificity: Expressed in myeloma and epidermoid carcinoma cell lines.

Evidence on tissue expression from TISSUES for PHIP Gene

  • Nervous system(4.6)
  • Liver(4.3)
  • Skin(4.2)
genes like me logo Genes that share expression patterns with PHIP: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PHIP Gene

Orthologs for PHIP Gene

This gene was present in the common ancestor of animals.

Orthologs for PHIP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PHIP 34 35
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia PHIP 34 35
  • 93.98 (n)
cow
(Bos Taurus)
Mammalia PHIP 34 35
  • 93.78 (n)
oppossum
(Monodelphis domestica)
Mammalia PHIP 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phip 34 16 35
  • 90.32 (n)
rat
(Rattus norvegicus)
Mammalia Phip 34
  • 88.91 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 88 (a)
OneToMany
-- 35
  • 76 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
chicken
(Gallus gallus)
Aves PHIP 34 35
  • 81.41 (n)
lizard
(Anolis carolinensis)
Reptilia PHIP 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia phip 34
  • 73.9 (n)
zebrafish
(Danio rerio)
Actinopterygii phip 34 35
  • 64.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002030 34
  • 50.42 (n)
fruit fly
(Drosophila melanogaster)
Insecta BRWD3 35
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToMany
Species where no ortholog for PHIP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PHIP Gene

ENSEMBL:
Gene Tree for PHIP (if available)
TreeFam:
Gene Tree for PHIP (if available)

Paralogs for PHIP Gene

Paralogs for PHIP Gene

(3) SIMAP similar genes for PHIP Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PHIP: view

Variants for PHIP Gene

Sequence variations from dbSNP and Humsavar for PHIP Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
VAR_036238 A colorectal cancer sample
VAR_036239 A colorectal cancer sample
rs1057518337 Likely pathogenic 79,042,898(-) TGGAC(A/G)CTTGT reference, missense, utr-variant-5-prime
rs878854420 Likely pathogenic 79,077,904(-) CTACT(C/T)CCTCA upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs878854421 Likely pathogenic 79,025,986(-) ACCTT(-/T)GGCTG reference, frameshift-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PHIP Gene

Variant ID Type Subtype PubMed ID
esv2675407 CNV deletion 23128226
esv3609676 CNV loss 21293372
esv3609678 CNV loss 21293372
nsv1074413 CNV deletion 25765185
nsv518477 CNV gain 19592680
nsv604051 CNV gain 21841781
nsv819945 CNV loss 19587683
nsv830705 CNV gain 17160897

Variation tolerance for PHIP Gene

Residual Variation Intolerance Score: 0.819% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.52; 88.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHIP Gene

Human Gene Mutation Database (HGMD)
PHIP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHIP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHIP Gene

Disorders for PHIP Gene

MalaCards: The human disease database

(2) MalaCards diseases for PHIP Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
melanoma metastasis
phimosis
  • tight foreskin
- elite association - COSMIC cancer census association via MalaCards
Search PHIP in MalaCards View complete list of genes associated with diseases

Relevant External Links for PHIP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHIP
genes like me logo Genes that share disorders with PHIP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PHIP Gene

Publications for PHIP Gene

  1. Cloning and characterization of PHIP, a novel insulin receptor substrate-1 pleckstrin homology domain interacting protein. (PMID: 11018022) Farhang-Fallah J. … Rozakis-Adcock M. (J. Biol. Chem. 2000) 2 3 4 64
  2. Histone recognition and large-scale structural analysis of the human bromodomain family. (PMID: 22464331) Filippakopoulos P. … Knapp S. (Cell 2012) 3 4 64
  3. Identification and characterization of a set of conserved and new regulators of cytoskeletal organisation, cell morphology and migration. (PMID: 21834987) Bai S.W. … Ridley A.J. (BMC Biol. 2011) 3 4 64
  4. Identification of a WD40 repeat-containing isoform of PHIP as a novel regulator of beta-cell growth and survival. (PMID: 17636024) Podcheko A. … Rozakis-Adcock M. (Mol. Cell. Biol. 2007) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for PHIP Gene

  • Addgene plasmids for PHIP

Sources for PHIP Gene

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